ライフサイエンスコーパス: sporadic case

1 CpG island within the TND critical region (1 sporadic case).

2 occur and are not rare (approximately 10% of sporadic cases).

3 dentifiable rearrangement of chromosome 6 (7 sporadic cases).

4 do not have a family history of the disease (sporadic cases).

5 in family AT08, another familial case, and a sporadic case.

6 gins in each affected pedigree or apparently sporadic case.

7 f 13 families as well as a new mutation in a sporadic case.

8 ene mutation on exon 2 was documented in one sporadic case.

9 ur findings may be relevant for familial and sporadic cases.

10 al cases from eight families and in 12 other sporadic cases.

11 onal epidemics of hepatitis E and continuous sporadic cases.

12 unclear, because they have been reported in sporadic cases.

13 .Leu189Arg)-18% prevalence in this cohort of sporadic cases.

14 th platinum-based chemotherapy compared with sporadic cases.

15 analysis was performed using 1,014 deceased sporadic cases.

16 g autosomal dominant transmission as well as sporadic cases.

17 CN mutations were only modestly enriched in sporadic cases.

18 iation analysis on nine PNTM families and 55 sporadic cases.

19 k for developing ALS in a cohort of American sporadic cases.

20 nd pathologically indistinguishable from the sporadic cases.

21 there are few data on the species that cause sporadic cases.

22 in age-onset patterns between inherited and sporadic cases.

23 ed in 80 to 90% of familial and 30 to 35% of sporadic cases.

24 ntrast, the STX16 mutation was absent in all sporadic cases.

25 arcinoma in BRCA1-linked cases compared with sporadic cases.

26 om three families with USH2C, as well as two sporadic cases.

27 terns in familial cases differ from those in sporadic cases.

28 p53 (via mutation) occurs in a proportion of sporadic cases.

29 history of pachyonychia and 11 of which were sporadic cases.

30 165 probands from multiplex families and 61 sporadic cases.

31 tive surgery were similar for hereditary and sporadic cases.

32 2 of 20 non-informative families and 7 of 20 sporadic cases.

33 of familial cases and a smaller fraction of sporadic cases.

34 were 3R tau-positive and 4R tau-negative in sporadic cases.

35 as from 2 of 3 HNPCC, 6 of 7 FAP, and 5 of 8 sporadic cases.

36 ponding germ-line sequence was normal in all sporadic cases.

37 origin of the achondroplasia mutation in 40 sporadic cases.

38 uppressor gene is inactivated in over 75% of sporadic cases.

39 nt for a low detection rate for mutations in sporadic cases.

40 xists in some families, but others appear as sporadic cases.

41 g specific candidate genes and studying only sporadic cases.

42 n two of the familial cases and in 45 of the sporadic cases.

43 the types of mutations between familial and sporadic cases.

44 llae, indicating complete penetrance with no sporadic cases.

45 d in 9/24 familial cases, but in only 13/147 sporadic cases.

46 cases and are associated with SVAS in three sporadic cases.

47 th young and older-onset patients, including sporadic cases.

48 igo, and familial MD is observed in 5-15% of sporadic cases.

49 count for a proportion of these early-onset, sporadic cases.

50 reditary cases and only 20% of patients with sporadic cases.

51 dominant or X-linked mutations occurring in sporadic cases.

52 TX1B were then identified in 449 familial or sporadic cases.

53 ated kindreds, and 9 were from patients with sporadic cases.

54 in a small number of multiplex kindreds and sporadic cases.

55 o biomarkers reliably discriminating between sporadic cases.

56 is/motor neuron disease in both familial and sporadic cases.

57 opathic dilated cardiomyopathy and in 18% of sporadic cases.

58 lated cardiomyopathy (DCM) from familial and sporadic cases.

59 9orf72 repeat expansion and C9orf72-negative sporadic cases.

60 to map the causal genes in small families or sporadic cases.

61 NE are possible for familial, recurrent, and sporadic cases.

62 allele (A) were 10.3% in controls, 11.9% in sporadic cases, 16.7% in familial cases, and 17.2% in ag

63 erwent surgery for MTC from 1991 to 1997 (23 sporadic cases, 17 familial cases).

64 schizophrenia by sequencing the exomes of 53 sporadic cases, 22 unaffected controls and their parents

65 mutations at a much higher frequency in the sporadic cases (32%) than in the multiplex families (9%)

66 Among the 10 sporadic cases, 7 tumors showed LOH at the VHL gene locu

67 140 colorectal cancer patients, including 45 sporadic cases, 91 familial non-HNPCC cases, and 4 HNPCC

68 In all sporadic cases, a heterozygous missense variant in ACTG2

69 Sporadic cases accounted for 84% of the patients; the ot

70 Familial and sporadic cases affected bymutations in KVLQT1, HERG, and

71 The absence of mutation in sporadic cases also indicates genetic heterogeneity in c

72 ons of America, Asia, India and Africa, with sporadic cases also occurring throughout the world.

73 n pathogenicity, especially if identified in sporadic cases, although this cutoff should be viewed as

74 no evidence of ASE in any of 44 informative sporadic cases analyzed.

75 ere identified in autosomal-dominant OS in 7 sporadic cases and 1 familial case, whereas an MBTPS2 (m

76 Forty-five patients with PGA (23 sporadic cases and 22 from familial pedigrees) and docum

77 fter adjusting for age in the dataset of 584 sporadic cases and 248 control samples.

78 Fifty-four (23%) of the 239 sporadic cases and 26 (43%) of the 61 clusters were asso

79 Patients included 56 sporadic cases and 34 familial probands.

80 which was paternal in origin where tested (4 sporadic cases and 7 familial cases from 2 families).

81 analysis of 343 ASD trios, 203 patients with sporadic cases and 988 controls in a Chinese population

82 By contrast, the 90% of apparently sporadic cases and incomplete penetrance of several gene

83 s that a combination of chance clustering of sporadic cases and insensitivity of mutation detection m

84 etrospective genotyping of Lp1 isolates from sporadic cases and Legionnaires' disease (LD) outbreaks

85 The country has experienced intervals of sporadic cases and localized outbreaks, occasionally res

86 serotype 4b strains account for about 40% of sporadic cases and many epidemics of listeriosis.

87 ic causes account for about half of presumed sporadic cases and nearly two thirds of familial cases o

88 Noroviruses are a leading cause of sporadic cases and outbreaks of acute gastroenteritis ac

89 were conducted in eight countries, reported sporadic cases and outbreaks of NLV-associated gastroent

90 demic in several West African countries with sporadic cases and prolonged outbreaks observed most com

91 Sporadic cases and short chains of human-to-human transm

92 contribute to schizophrenia vulnerability in sporadic cases and that rare genetic lesions at many dif

93 h6 mutations were not found in any of the 45 sporadic cases and the 4 HNPCC cases in the population-b

94 for single gene disorders, particularly for sporadic cases and those from small families.

95 insulinism-hyperammonemia syndrome: six with sporadic cases and two with familial cases.

96 testing of 7 tumors identified no changes in sporadic cases and yielded results supporting presence o

97 There were 35 "sporadic" cases and a restaurant-associated outbreak of

98 trio families and 256 unrelated non-familial sporadic cases) and 402 healthy ethnically matched contr

99 ively) were detected in all but one isolate (sporadic case), and Shiga toxin production by the day ca

100 the one known dominant dRTA kindred, in one sporadic case, and one kindred with two affected brother

101 enotyped in a total of 159 HPC probands, 245 sporadic cases, and 211 unaffected controls to assess th

102 e variant has been described in familial and sporadic cases, and also found in controls, casting doub

103 China and India had reports only of sporadic cases, and except for South Africa, sub-Saharan

104 tically unclassified autosomal recessive and sporadic cases; and (ii) hypomyelination is frequently a

105 Compared with sporadic cases, AR-DLBCL demonstrated increased hyperpro

106 Inheritance is autosomal dominant; sporadic cases are also found.

107 Sporadic cases are associated with KIAA1549:BRAF fusion

108 ted as an autosomal dominant trait, although sporadic cases are common and autosomal recessive inheri

109 We observed that Lp1 STs from outbreaks and sporadic cases are more similar to each other than eithe

110 X mutations were identified in six unrelated sporadic cases, as well as in two affected sisters and t

111 s from both the day care center outbreak and sporadic cases by CHEF-PFGE permitted us to define the R

112 We have screened 155 sporadic cases by single-strand conformation polymorphis

113 elic tumor MLH1 methylation, indicating that sporadic cases can be admixed in with Lynch syndrome cas

114 es representing 16 major outbreaks and three sporadic cases collected between 2001 and 2012 were sequ

115 tions were identified in only 27/79 (34%) of sporadic cases, compared with 25/46 (54%) of familial ca

116 all other regions in the years 2015-2016 but sporadic cases continued to occur.

117 ic diagnosis remains difficult especially in sporadic cases, due to the very large number of mutation

118 The subjects examined comprised about 3% of sporadic cases evaluated by the National Prion Disease P

119 ed 16 desmoid tumors from FAP-associated and sporadic cases, finding that all 16 of 16 tumors express

120 s were significantly under-represented among sporadic cases (Fisher's exact p -value = 3.12 x 10(-4))

121 Of the nine presumed sporadic cases, five were from four renal transplant rec

122 normal exon 10 was also spliced out; (ii) a sporadic case had a 1 bp deletion in exon 12 (1634delT);

123 l team and from other community clusters and sporadic cases had PFGE patterns that were indistinguish

124 Analysis of familial cancer syndromes and sporadic cases has strongly implicated both p53 and pRb

125 Since the 1916-1927 epidemic, only sporadic cases have been described.

126 Sporadic cases have been shown to have more variable dis

127 In two sporadic cases, heterozygosity for de novo missense muta

128 te 2007 on 57 Cryptosporidium specimens from sporadic cases in Colorado, Idaho, New Mexico, and Iowa.

129 However, because of clustering of sporadic cases in families, and potentially because of t

130 hepatitis in developing countries as well as sporadic cases in industrialized countries.

131 We found apparently sporadic cases in other states that could be linked to t

132 Sporadic cases in otherwise normal individuals are rare,

133 te outbreak cases from temporally associated sporadic cases in the same geographic areas and facilita

134 ion could be more frequently associated with sporadic cases in the United States.

135 on, we identified a further 8 families and 1 sporadic case, in whom 6 BEST1 missense mutations were f

136 cohort of 58 subjects with CSNB identified a sporadic case individual with a homozygous GNB3 mutation

137 o 93% similarity) among the 28 isolates from sporadic-case individuals, including REDP 33, which was

138 n those inhabited by the day care center and sporadic-case individuals.

139 ated the possibility that HH pathogenesis in sporadic cases is due to a somatic (tumor-only) mutation

140 up C N. meningitidis outbreak-associated and sporadic-case isolates with a single metabolic gene.

141 33, which was exhibited by both day care and sporadic-case isolates.

142 made a primary keratinocyte cell line from a sporadic case known to carry the R125C mutation as part

143 2) = 1.31; P = 0.25) or between familial and sporadic cases (log-rank chi(2) = 1.16, with 1 df; P = 0

144 in BRCA1 (n = 15) or BRCA2 (n = 9) and in 39 sporadic cases matched for patient age and tumor hormone

145 revalent in Thailand and northern Australia, sporadic cases may be encountered in areas where it is n

146 96 individuals), clearly affected, unrelated sporadic cases (n=196) and clearly unaffected, unrelated

147 Both autosomal dominant and sporadic cases occur.

148 ls from the surrounding geographic area with sporadic cases occurring during the 3 months before the

149 collected during M. pneumoniae outbreaks and sporadic cases occurring in the United States from Febru

150 Ninety-nine families, each with a sporadic case of achondroplasia in a child, were analyze

151 In this study we report a sporadic case of agnathia-otocephaly complex with associ

152 using ACTN4 mutation (p.G195D, de novo) in a sporadic case of childhood FSGS using next generation se

153 tional cases revealed the same mutation in a sporadic case of CNC, and different mutations in three o

154 de novo mutations in a family quartet with a sporadic case of epileptic encephalopathy with no known

155 ct missense mutations in five families and a sporadic case of erythrokeratodermia variabilis, all of

156 0; mean age of onset, 42 years), even in the sporadic case of family 3 with a presumed recessive tran

157 ine kinase domain of FGFR2, described in the sporadic case of LADD syndrome, leads to reduced tyrosin

158 G/A641R double mutant, first identified in a sporadic case of MTC.

159 e helpful in assessing the likelihood that a sporadic case of parotitis without laboratory confirmati

160 We report a new sporadic case of severe, atypical OS and its underlying

161 Sporadic cases of achondroplasia have been associated wi

162 s) are the most common cause of epidemic and sporadic cases of acute gastroenteritis worldwide.

163 t commonly identified cause of outbreaks and sporadic cases of acute gastroenteritis.

164 ion factor 1 (RUNX1) have been identified in sporadic cases of acute myeloid leukemia (AML) and in as

165 chanism that may account for a proportion of sporadic cases of AD, but to date there has been no evid

166 s infectious agent in the pathophysiology of sporadic cases of AD.

167 ng mutations are also frequently observed in sporadic cases of advanced NB.

168 es, and they may emerge as a common cause of sporadic cases of AGE among both children and adults.

169 vious study suggested an association between sporadic cases of ALS and NFH tail deletions, but two su

170 SOD1 could be a factor in the occurrence of sporadic cases of amyotrophic lateral sclerosis, which r

171 Although ICC is now rare, sporadic cases of an ICC-like disorder in infants contin

172 or C758G) are responsible for virtually all sporadic cases of Apert syndrome.

173 ified novel rare variants and has found that sporadic cases of ASD/ID are enriched for disruptive de

174 have looked for mutations in the ATM gene in sporadic cases of B-cell chronic lymphocytic leukaemia (

175 most frequently reported complications, with sporadic cases of band erosion, port/tube dysfunction, h

176 the BRCA2 mutation, and seven patients with sporadic cases of breast cancer was compared with a micr

177 mutation status was found in familial versus sporadic cases of BRR ( P = 0.113).

178 nancies, but notably in all endemic and some sporadic cases of Burkitt's lymphoma (BL).

179 lly disparate hospitals and 15 isolates from sporadic cases of C. difficile diarrhea.

180 In this study, 11 sporadic cases of canine narcolepsy and two additional m

181 It is still unknown, however, if the sporadic cases of CCM also follow this genetic mechanism

182 l variants in a large number of familial and sporadic cases of cervical dystonia led to the identific

183 s that are associated with both familial and sporadic cases of CHD.

184 p until the early 2000s, a few outbreaks and sporadic cases of CHIKV were mainly reported in Africa a

185 In one of three informative sporadic cases of cHL, we detected loss of heterozygosit

186 e VHL gene also occur in a large majority of sporadic cases of clear-cell RCC, which have high intrin

187 utrophil elastase have been detected in many sporadic cases of congenital neutropenia.

188 severe mutations in MEF2A might also explain sporadic cases of coronary artery disease (CAD).

189 In this study we found that most sporadic cases of cryptosporidiosis in Wisconsin are cau

190 In 7 other families with sporadic cases of DC or with an uncertain pattern of inh

191 of human astrovirus (HAstV) in outbreaks and sporadic cases of diarrhea among children attending chil

192 Group B rotaviruses are associated with sporadic cases of diarrhea in calves and adult cows.

193 nding mutations at the disease locus and for sporadic cases of disease.

194 investigations of C. difficile outbreaks and sporadic cases of disease.

195 a (AR-DLBCL) and compare these findings with sporadic cases of DLBCL.

196 he X-linked doublecortin gene appear in many sporadic cases of double cortex (DC; also known as subco

197 declared the end of the outbreak early 2016, sporadic cases of EBOV infection have since been reporte

198 ngs do not rule out the possibility of rare, sporadic cases of either ANCA seroconversion or true dru

199 4 were performed in five pedigrees and three sporadic cases of EKV.

200 a human and veterinary pathogen that causes sporadic cases of fatal neurological disease.

201 al distribution and reports that BHAV causes sporadic cases of febrile illness and encephalitis in hu

202 rther missense substitutions in familial and sporadic cases of FECD as well as in a single family wit

203 l fluid have suggested additional markers in sporadic cases of FTLD that will lead to the identificat

204 les from patients from 529 outbreaks and 141 sporadic cases of gastroenteritis in the North of Englan

205 nmental V. cholerae isolates associated with sporadic cases of gastroenteritis in the Western Hemisph

206 hia coli [STEC]) implicated in outbreaks and sporadic cases of human illness (SPT A and B).

207 e to circulate among avian species and cause sporadic cases of human infection.

208 mutations in COL4A1 and COL4A2 contribute to sporadic cases of ICH.

209 report the clinical features of the first 11 sporadic cases of infection of humans with triple-reasso

210 s of 44 additional unrelated families and 44 sporadic cases of interstitial lung disease revealed fiv

211 s a cause of gastroenteritis with fever, and sporadic cases of invasive listeriosis may be due to unr

212 th IPF, and shortened telomeres are found in sporadic cases of IPF.

213 vestigate the role of NPHS2 polymorphisms in sporadic cases of late-onset FSGS, we studied 377 biopsy

214 he United States, 571 clinical isolates from sporadic cases of LD in the United States, and 149 envir

215 A total of 244 strains were isolated from sporadic cases of meningococcal disease, and 200 strains

216 break in Pontypridd, Glamorgan; 15 were from sporadic cases of meningococcal disease; 26 were from th

217 Sporadic cases of mismatch repair deficiency occur almos

218 ygous genetic variants have been reported in sporadic cases of MPGN, although their functional signif

219 ereditary cases and approximately 40% of the sporadic cases of MTC, the RET kinase is constitutively

220 ipts have been detected in both familial and sporadic cases of myelodysplastic syndromes (MDS).

221 found to be affected by somatic mutations in sporadic cases of myeloid neoplasms as well as in a bial

222 btypes could have targeted about half of the sporadic cases of NMSB disease that occurred between 199

223 RRK2) have been associated with familial and sporadic cases of Parkinson disease.

224 ought to play a critical role in more common sporadic cases of Parkinson's disease as well because th

225 found in autosomal recessive forms and some sporadic cases of Parkinson's disease.

226 Sporadic cases of parotitis are generally assumed to be

227 ns throughout the United States investigated sporadic cases of parotitis.

228 atients in Japan, as well as strains causing sporadic cases of PCP in nontransplant patients with or

229 tic mutation in both familial and apparently sporadic cases of PD.

230 circovirus 2 (PCV2) was first identified in sporadic cases of postweaning multisystemic wasting synd

231 at least 50% of familial cases and in 25% of sporadic cases of PPH.

232 eta) superfamily, underlie many familial and sporadic cases of primary pulmonary hypertension (PPH).

233 In sporadic cases of progressive supranuclear palsy, the pr

234 , analysis of the fusion has been limited to sporadic cases of prostate cancer.

235 Knudson's analysis of inherited and sporadic cases of retinoblastoma supported this predicti

236 von Hippel-Lindau syndrome (as distinct from sporadic cases of single von Hippel-Lindau-associated tu

237 RNS, occurring in approximately 20 to 30% of sporadic cases of SRNS.

238 sting that somatic mutations may account for sporadic cases of the arrhythmia.

239 recessive forms of PD, is also implicated in sporadic cases of the disease.

240 utopsied Parkinsonian tissue from late-onset sporadic cases of the disease.

241 -frame deletions in STAT3 in 50 familial and sporadic cases of the hyper-IgE syndrome.

242 such findings are reminiscent of reports of sporadic cases of the imprinting disorder, Angelman synd

243 f genetic instability, resulting in rare and sporadic cases of vaccine-associated paralytic poliomyel

244 We compared 85 sporadic cases of VTEC O157 infection, identified throug

245 Methods After the observation of sporadic cases of WAHA that occurred after treatment of

246 In Europe, only sporadic cases or small clusters of USA300 infections ar

247 fuse, and initially unremarkable increase in sporadic cases, or as an explosive epidemic suddenly pro

248 Among presumed sporadic cases, our data suggest they may be over-repres

249 ogenic with higher blood-vessel density than sporadic cases (P < .001) and highlighted the role of Ep

250 d in 16 of 24 (67%) HNPCC vs. 24 of 26 (92%) sporadic cases (P = 0.035) and in 2 of 2 FAP cases.

251 second family (p.Gly616Arg) and in two of 11 sporadic cases (p.Leu189Pro, p.Leu189Arg)-18% prevalence

252 An Arg-589/His mutation in the sporadic case proved to be a de novo mutation.

253 Identifying de novo mutations (DNMs) in sporadic cases provides an effective strategy to find ge

254 ing was conducted in 12 PNTM families and 57 sporadic cases recruited at the National Institutes of H

255 auses of other AD and PD cases, particularly sporadic cases, remain unclear.

256 al Alzheimer's disease (AD), the etiology of sporadic cases remains elusive.

257 ation to determine whether it was related to sporadic cases reported in other states among persons wh

258 nd outbreak-related cases were compared with sporadic cases reported previously to the Listeria Initi

259 revious melanomas stratified by familial and sporadic cases separately has not yet been reported, alt

260 dren and comparison to previous outbreak and sporadic case series.

261 udied and on the assumption that half of the sporadic cases should have TSC2 mutations, a crude estim

262 ase showed a 2 bp deletion in exon 36; (v) a sporadic case showed a 1 bp insertion disrupting the don

263 9 bp truncation of mRNA from exon 23; (iv) a sporadic case showed a 2 bp deletion in exon 36; (v) a s

264 dicted to produce a truncated protein: (i) a sporadic case showed a 32 bp deletion in exon 11, and a

265 have larger effect sizes than those found in sporadic cases, so family-based designs can be a more po

266 sease is the absence of a vaccine to prevent sporadic cases spanning many age groups.

267 hese mutations was detected in six unrelated sporadic case subjects and also segregated in one family

268 HSAN I critical region in 5 families and the sporadic case suggested a common founder.

269 We found 6 sporadic cases that experienced APE during the study per

270 The Canadian outbreak was closely related to sporadic cases that occurred preoutbreak in cross-border

271 formation polymorphism and have identified 4 sporadic cases that possess point mutations in exon 4 of

272 with dominantly inherited disease and in 90 sporadic cases that presented with a compatible clinical

273 Gs (2 neurofibromatosis type 1-related and 2 sporadic cases) that received treatment with bevacizumab

274 mportantly, these approaches enable study of sporadic cases, the most common presentation of CHD.

275 Among the NMSB isolates obtained from sporadic cases, the most prevalent serosubtypes were P1.

276 ons were identified in the six patients with sporadic cases; the two patients with familial cases sha

277 status revealed that in striking contrast to sporadic cases, there is a nearly complete lack of HIN-1

278 Among the sporadic cases, there were distinct geographical and tem

279 mphoblastoid cells from family 1 and the two sporadic cases, these mutations altered the phosphorylat

280 In four apparently sporadic cases, three frameshift and a missense mutation

281 Source attribution of sporadic cases through case-control interviews has not b

282 e the rate of the initiating APC mutation in sporadic cases using the age incidence of FAP to approxi

283 emiologically distinct outbreaks and several sporadic cases were analyzed.

284 In addition, 250 laboratory-confirmed sporadic cases were reported in persons who developed ga

285 raw milk, while the sources for most of the sporadic cases were unknown.

286 ain unknown, typically in small families and sporadic cases, wherein cosegregation could not be estab

287 l ovarian cancer cases is worse than that in sporadic cases, whether or not a BRCA1/2 mutation was id

288 related probands with NF1 (14 familial and 7 sporadic cases) who were all found to have the same c.29

289 enotype of HSAN I in 6 families and a single sporadic case with a common founder identifies a number

290 exon 7 of NTN1 in 2 unrelated families and 1 sporadic case with isolated congenital mirror movements

291 The variant was detected in a single sporadic case with M-D, but in none of the 146 probands

292 m of ATP2A2 mutations in 19 families and six sporadic cases with DD and investigate genotype-phenotyp

293 F is also downregulated in the cortices from sporadic cases with major mental disease.

294 genetic cause was identified in 156 (13%) of sporadic cases with other causes being alcohol excess (1

295 nd familial RTT patients, but only 1/5 (20%) sporadic cases with suggestive but non-diagnostic featur

296 24 Hailey-Hailey disease families and three sporadic cases with the disorder.

297 tic heterogeneity has been confirmed in rare sporadic cases, with mutations affecting other postsynap

298 lity that women with breast cancer represent sporadic cases within hereditary cancer families must al

299 vary from complex inheritance in families to sporadic cases without any evidence of inheritance.

300 ber of mutation carriers within families and sporadic cases worldwide for pathogenic mutations in SNC